UniProtKB - Q3SXY8 (AR13B_HUMAN)
Protein
ADP-ribosylation factor-like protein 13B
Gene
ARL13B
Organism
Homo sapiens (Human)
Status
Functioni
Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidence is required to confirm these data.1 Publication
Miscellaneous
Used as a ciliary marker because of its specific localization to microtubule doublets of the ciliary axoneme.
Caution
Was initially thought to form a homodimer (PubMed:18554500). However, 3D structure of C.reinhardtii ortholog showed that it is probably not the case.1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 28 – 35 | GTPBy similarity | 8 | |
Nucleotide bindingi | 71 – 75 | GTPBy similarity | 5 | |
Nucleotide bindingi | 130 – 133 | GTPBy similarity | 4 |
GO - Molecular functioni
- GTP binding Source: UniProtKB-KW
GO - Biological processi
- aggrephagy Source: Reactome
- cilium assembly Source: UniProtKB
- formation of radial glial scaffolds Source: UniProtKB
- interneuron migration from the subpallium to the cortex Source: UniProtKB
- neural tube patterning Source: UniProtKB
- non-motile cilium assembly Source: UniProtKB
- receptor localization to non-motile cilium Source: GO_Central
- smoothened signaling pathway Source: UniProtKB
Keywordsi
Ligand | GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q3SXY8 |
Reactomei | R-HSA-5624958, ARL13B-mediated ciliary trafficking of INPP5E R-HSA-9613829, Chaperone Mediated Autophagy R-HSA-9615710, Late endosomal microautophagy R-HSA-9646399, Aggrephagy |
Names & Taxonomyi
Protein namesi | Recommended name: ADP-ribosylation factor-like protein 13BAlternative name(s): ADP-ribosylation factor-like protein 2-like 1 Short name: ARL2-like protein 1 |
Gene namesi | Name:ARL13B Synonyms:ARL2L1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25419, ARL13B |
MIMi | 608922, gene |
neXtProti | NX_Q3SXY8 |
VEuPathDBi | HostDB:ENSG00000169379.15 |
Subcellular locationi
Plasma membrane
- cilium membrane 2 Publications; Lipid-anchor 2 Publications
Other locations
- cilium 1 Publication
Note: Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.
Cytosol
- cytosol Source: Reactome
Plasma Membrane
- ciliary membrane Source: UniProtKB
Other locations
- cilium Source: UniProtKB
- motile cilium Source: GO_Central
- non-motile cilium Source: GO_Central
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, MembranePathology & Biotechi
Involvement in diseasei
Joubert syndrome 8 (JBTS8)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054371 | 79 | R → Q in JBTS8; reduces binding to GTP. 1 PublicationCorresponds to variant dbSNP:rs121912606EnsemblClinVar. | 1 | |
Natural variantiVAR_077496 | 86 | Y → C in JBTS8; the patient also manifests obesity as a feature; decreased localization to cilium. 1 PublicationCorresponds to variant dbSNP:rs863225430EnsemblClinVar. | 1 | |
Natural variantiVAR_054372 | 200 | R → C in JBTS8. 1 PublicationCorresponds to variant dbSNP:rs121912608EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 35 | T → N: Does not affect localization to cilia. 1 Publication | 1 | |
Mutagenesisi | 130 | N → I: Does not affect localization to cilia. 1 Publication | 1 | |
Mutagenesisi | 231 | K → R: No effect. Abolishes sumoylation; when associated with R-270; R-275; R-276; R-279 and R-329. 1 Publication | 1 | |
Mutagenesisi | 270 | K → R: No effect. Abolishes sumoylation; when associated with R-231; R-275; R-276; R-279 and R-329. 1 Publication | 1 | |
Mutagenesisi | 275 | K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-276; R-279 and R-329. 1 Publication | 1 | |
Mutagenesisi | 276 | K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-279 and R-329. 1 Publication | 1 | |
Mutagenesisi | 279 | K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-329. 1 Publication | 1 | |
Mutagenesisi | 329 | K → R: Abolishes sumoylation. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-279. 1 Publication | 1 |
Keywords - Diseasei
Ciliopathy, Disease variant, Joubert syndromeOrganism-specific databases
DisGeNETi | 200894 |
GeneReviewsi | ARL13B |
MalaCardsi | ARL13B |
MIMi | 612291, phenotype |
OpenTargetsi | ENSG00000169379 |
Orphaneti | 475, Joubert syndrome |
PharmGKBi | PA134975272 |
Miscellaneous databases
Pharosi | Q3SXY8, Tbio |
Genetic variation databases
BioMutai | ARL13B |
DMDMi | 115503786 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000251137 | 1 – 428 | ADP-ribosylation factor-like protein 13BAdd BLAST | 428 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 8 | S-palmitoyl cysteineBy similarity | 1 | |
Lipidationi | 9 | S-palmitoyl cysteineBy similarity | 1 | |
Cross-linki | 329 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated |
Post-translational modificationi
Sumoylation is required for PKD2 entry into cilium.1 Publication
Keywords - PTMi
Isopeptide bond, Lipoprotein, Palmitate, Ubl conjugationProteomic databases
EPDi | Q3SXY8 |
jPOSTi | Q3SXY8 |
MassIVEi | Q3SXY8 |
MaxQBi | Q3SXY8 |
PaxDbi | Q3SXY8 |
PeptideAtlasi | Q3SXY8 |
PRIDEi | Q3SXY8 |
ProteomicsDBi | 32429 61823 [Q3SXY8-1] 61824 [Q3SXY8-2] |
PTM databases
iPTMneti | Q3SXY8 |
PhosphoSitePlusi | Q3SXY8 |
SwissPalmi | Q3SXY8 |
Expressioni
Tissue specificityi
Expressed in the developing brain.1 Publication
Gene expression databases
Bgeei | ENSG00000169379, Expressed in secondary oocyte and 200 other tissues |
ExpressionAtlasi | Q3SXY8, baseline and differential |
Genevisiblei | Q3SXY8, HS |
Organism-specific databases
HPAi | ENSG00000169379, Low tissue specificity |
Interactioni
Subunit structurei
Monomer (By similarity).
Interacts with PIFO.
Interacts with IFT complex B components IFT46 and IFT74.
By similarity2 PublicationsBinary interactionsi
Q3SXY8
Protein-protein interaction databases
BioGRIDi | 128353, 166 interactors |
IntActi | Q3SXY8, 143 interactors |
STRINGi | 9606.ENSP00000377769 |
Miscellaneous databases
RNActi | Q3SXY8, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 192 – 245 | Sequence analysisAdd BLAST | 54 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 369 – 419 | Pro-richAdd BLAST | 51 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG0074, Eukaryota KOG0076, Eukaryota |
GeneTreei | ENSGT00940000156365 |
HOGENOMi | CLU_040729_3_0_1 |
InParanoidi | Q3SXY8 |
OMAi | CPLKHKM |
OrthoDBi | 732329at2759 |
PhylomeDBi | Q3SXY8 |
TreeFami | TF105476 |
Family and domain databases
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR005225, Small_GTP-bd_dom IPR006689, Small_GTPase_ARF/SAR |
Pfami | View protein in Pfam PF00025, Arf, 1 hit |
PRINTSi | PR00328, SAR1GTPBP |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR00231, small_GTP, 1 hit |
PROSITEi | View protein in PROSITE PS51417, ARF, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q3SXY8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MFSLMASCCG WFKRWREPVR KVTLLMVGLD NAGKTATAKG IQGEYPEDVA
60 70 80 90 100
PTVGFSKINL RQGKFEVTIF DLGGGIRIRG IWKNYYAESY GVIFVVDSSD
110 120 130 140 150
EERMEETKEA MSEMLRHPRI SGKPILVLAN KQDKEGALGE ADVIECLSLE
160 170 180 190 200
KLVNEHKCLC QIEPCSAISG YGKKIDKSIK KGLYWLLHVI ARDFDALNER
210 220 230 240 250
IQKETTEQRA LEEQEKQERA ERVRKLREER KQNEQEQAEL DGTSGLAELD
260 270 280 290 300
PEPTNPFQPI ASVIIENEGK LEREKKNQKM EKDSDGCHLK HKMEHEQIET
310 320 330 340 350
QGQVNHNGQK NNEFGLVENY KEALTQQLKN EDETDRPSLE SANGKKKTKK
360 370 380 390 400
LRMKRNHRVE PLNIDDCAPE SPTPPPPPPP VGWGTPKVTR LPKLEPLGET
410 420
HHNDFYRKPL PPLAVPQRPN SDAHDVIS
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8W837 | F8W837_HUMAN | ADP-ribosylation factor-like protei... | ARL13B | 89 | Annotation score: | ||
F8WAY0 | F8WAY0_HUMAN | ADP-ribosylation factor-like protei... | ARL13B | 56 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 275 | K → KK in CAD28544 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054371 | 79 | R → Q in JBTS8; reduces binding to GTP. 1 PublicationCorresponds to variant dbSNP:rs121912606EnsemblClinVar. | 1 | |
Natural variantiVAR_077496 | 86 | Y → C in JBTS8; the patient also manifests obesity as a feature; decreased localization to cilium. 1 PublicationCorresponds to variant dbSNP:rs863225430EnsemblClinVar. | 1 | |
Natural variantiVAR_054372 | 200 | R → C in JBTS8. 1 PublicationCorresponds to variant dbSNP:rs121912608EnsemblClinVar. | 1 | |
Natural variantiVAR_048319 | 348 | T → S. Corresponds to variant dbSNP:rs33944211EnsemblClinVar. | 1 | |
Natural variantiVAR_069190 | 390 | R → L in a nephronophthisis (NPHP) patient. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045421 | 1 – 103 | Missing in isoform 3. 1 PublicationAdd BLAST | 103 | |
Alternative sequenceiVSP_020733 | 21 – 127 | Missing in isoform 2. 1 PublicationAdd BLAST | 107 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL713789 mRNA Translation: CAD28544.2 AC117474 Genomic DNA No translation available. AC130896 Genomic DNA No translation available. CH471052 Genomic DNA Translation: EAW79897.1 CH471052 Genomic DNA Translation: EAW79901.1 CH471052 Genomic DNA Translation: EAW79898.1 BC094725 mRNA Translation: AAH94725.1 BC104035 mRNA Translation: AAI04036.1 BC104036 mRNA Translation: AAI04037.1 |
CCDSi | CCDS2924.1 [Q3SXY8-2] CCDS2925.1 [Q3SXY8-1] CCDS54615.1 [Q3SXY8-3] |
RefSeqi | NP_001167621.1, NM_001174150.1 [Q3SXY8-1] NP_001167622.1, NM_001174151.1 [Q3SXY8-3] NP_659433.2, NM_144996.3 [Q3SXY8-2] NP_878899.1, NM_182896.2 [Q3SXY8-1] XP_016861342.1, XM_017005853.1 [Q3SXY8-3] |
Genome annotation databases
Ensembli | ENST00000303097; ENSP00000306225; ENSG00000169379 [Q3SXY8-2] ENST00000394222; ENSP00000377769; ENSG00000169379 [Q3SXY8-1] ENST00000471138; ENSP00000420780; ENSG00000169379 [Q3SXY8-1] ENST00000535334; ENSP00000445145; ENSG00000169379 [Q3SXY8-3] |
GeneIDi | 200894 |
KEGGi | hsa:200894 |
UCSCi | uc003drc.4, human [Q3SXY8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL713789 mRNA Translation: CAD28544.2 AC117474 Genomic DNA No translation available. AC130896 Genomic DNA No translation available. CH471052 Genomic DNA Translation: EAW79897.1 CH471052 Genomic DNA Translation: EAW79901.1 CH471052 Genomic DNA Translation: EAW79898.1 BC094725 mRNA Translation: AAH94725.1 BC104035 mRNA Translation: AAI04036.1 BC104036 mRNA Translation: AAI04037.1 |
CCDSi | CCDS2924.1 [Q3SXY8-2] CCDS2925.1 [Q3SXY8-1] CCDS54615.1 [Q3SXY8-3] |
RefSeqi | NP_001167621.1, NM_001174150.1 [Q3SXY8-1] NP_001167622.1, NM_001174151.1 [Q3SXY8-3] NP_659433.2, NM_144996.3 [Q3SXY8-2] NP_878899.1, NM_182896.2 [Q3SXY8-1] XP_016861342.1, XM_017005853.1 [Q3SXY8-3] |
3D structure databases
SMRi | Q3SXY8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 128353, 166 interactors |
IntActi | Q3SXY8, 143 interactors |
STRINGi | 9606.ENSP00000377769 |
PTM databases
iPTMneti | Q3SXY8 |
PhosphoSitePlusi | Q3SXY8 |
SwissPalmi | Q3SXY8 |
Genetic variation databases
BioMutai | ARL13B |
DMDMi | 115503786 |
Proteomic databases
EPDi | Q3SXY8 |
jPOSTi | Q3SXY8 |
MassIVEi | Q3SXY8 |
MaxQBi | Q3SXY8 |
PaxDbi | Q3SXY8 |
PeptideAtlasi | Q3SXY8 |
PRIDEi | Q3SXY8 |
ProteomicsDBi | 32429 61823 [Q3SXY8-1] 61824 [Q3SXY8-2] |
Protocols and materials databases
Antibodypediai | 32073, 117 antibodies |
DNASUi | 200894 |
Genome annotation databases
Ensembli | ENST00000303097; ENSP00000306225; ENSG00000169379 [Q3SXY8-2] ENST00000394222; ENSP00000377769; ENSG00000169379 [Q3SXY8-1] ENST00000471138; ENSP00000420780; ENSG00000169379 [Q3SXY8-1] ENST00000535334; ENSP00000445145; ENSG00000169379 [Q3SXY8-3] |
GeneIDi | 200894 |
KEGGi | hsa:200894 |
UCSCi | uc003drc.4, human [Q3SXY8-1] |
Organism-specific databases
CTDi | 200894 |
DisGeNETi | 200894 |
GeneCardsi | ARL13B |
GeneReviewsi | ARL13B |
HGNCi | HGNC:25419, ARL13B |
HPAi | ENSG00000169379, Low tissue specificity |
MalaCardsi | ARL13B |
MIMi | 608922, gene 612291, phenotype |
neXtProti | NX_Q3SXY8 |
OpenTargetsi | ENSG00000169379 |
Orphaneti | 475, Joubert syndrome |
PharmGKBi | PA134975272 |
VEuPathDBi | HostDB:ENSG00000169379.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0074, Eukaryota KOG0076, Eukaryota |
GeneTreei | ENSGT00940000156365 |
HOGENOMi | CLU_040729_3_0_1 |
InParanoidi | Q3SXY8 |
OMAi | CPLKHKM |
OrthoDBi | 732329at2759 |
PhylomeDBi | Q3SXY8 |
TreeFami | TF105476 |
Enzyme and pathway databases
PathwayCommonsi | Q3SXY8 |
Reactomei | R-HSA-5624958, ARL13B-mediated ciliary trafficking of INPP5E R-HSA-9613829, Chaperone Mediated Autophagy R-HSA-9615710, Late endosomal microautophagy R-HSA-9646399, Aggrephagy |
Miscellaneous databases
BioGRID-ORCSi | 200894, 13 hits in 995 CRISPR screens |
ChiTaRSi | ARL13B, human |
GeneWikii | ARL13B |
GenomeRNAii | 200894 |
Pharosi | Q3SXY8, Tbio |
PROi | PR:Q3SXY8 |
RNActi | Q3SXY8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000169379, Expressed in secondary oocyte and 200 other tissues |
ExpressionAtlasi | Q3SXY8, baseline and differential |
Genevisiblei | Q3SXY8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR005225, Small_GTP-bd_dom IPR006689, Small_GTPase_ARF/SAR |
Pfami | View protein in Pfam PF00025, Arf, 1 hit |
PRINTSi | PR00328, SAR1GTPBP |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR00231, small_GTP, 1 hit |
PROSITEi | View protein in PROSITE PS51417, ARF, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AR13B_HUMAN | |
Accessioni | Q3SXY8Primary (citable) accession number: Q3SXY8 Secondary accession number(s): D3DN29 Q8TCL5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 3, 2006 |
Last sequence update: | October 11, 2005 | |
Last modified: | April 7, 2021 | |
This is version 136 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families